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Heterotaxy Syndrome

By surekha

Heterotaxy syndrome is a rare disorder in which children are born with unusual distribution of certain vital organs in the body. This disorder can affect the normal development of certain organs like heart, liver and intestines. Here there is abnormality in the distribution of organs of thoracic and abdominal region. This disorder is evident right from the embryo stage of growth of fetus. For some babies, heart can form on the right side of the body in contrast to the left. Heterotaxy syndrome is also known as situs ambiguous meaning unclear development or unequal distribution of certain organs in the body. However this is a very rare disorder affecting one out of 30,000 births.

Symptoms :

Signs and symptoms vary with respect to the intensity of isomerism and abnormal distribution of organs. Children with Heterotaxy syndrome are likely to develop heart diseases. Mostly they are born with pre-existing heart problem. Cyanotic heart disease develops in children with right isomerism. Some children may develop intestinal problems, malabsorption of nutrients and midgut volvulus later.

Causes :

Exact cause of Heterotaxy syndrome is not known. The disorder becomes evident during the development of fetus which takes wrong position while formation of organs. It can occur possibly due to severe infection or genetic problems or over-exposure of the mother to strong chemicals.

Diagnosis :

Routine ultrasound scanning of the fetus is enough to detect Heterotaxy syndrome. After birth, echocardiogram test and electrocardiogram would be done to identify the intensity of heart problems. The size of the heart can be evaluated through chest X-ray. And for the children with liver or intestinal disorders and positioning, scanning of liver and spleen is to be done.

Complications :

For some children there can be duplication of intra thoracic organs and severe changes below the stomach. The liver can be positioned in different place and for some the stomach is positioned abnormally. Children born with left isomerism may have two lobed lungs, bilateral left atria, multiple splenules or transverse liver. Children with right isomerism can have complexities like trilobed lungs, absence of spleen, bilateral bronchi, midline liver and rotation of intestines to other place.

Treatment :

Complete cure is not possible in Heterotaxy syndrome since the child is born with congenital (by birth) disorders. Surgical repair and management of heart diseases can be done depending on the intensity of problem. Malformation can occur in varying degrees and hence treatment is not the same for all. Medications are given to manage heart failure and corrective surgeries are to be done for correcting the abnormal positioning of the heart.

Electrical signals generated from the heart can become erratic for such children and hence fitting a pacemaker is essential for them. Similarly children with abnormal liver position, surgery can be done for placing the liver in right position.

Prognosis :

The rate of survival in case of Heterotaxy syndrome is very low and mostly the child may not survive for long if it has complications in many organs. Children born with minimal isomerism can lead normal life after repairing surgery is done.

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